FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term spondyloepiphyseal dysplasia with congenital joint dislocations ID (Ontology) DOID:0050813 (Human Disease)
Definition A spondyloepiphyseal dysplasia that is characterized by short stature of prenatal onset, joint dislocations (knees, hips, radial heads), club feet, and limitation of range of motion that can involve all large joints.
Also Known As "CHONDRODYSPLASIA WITH MULTIPLE DISLOCATIONS" ; "CHST3-Related Skeletal Dysplasia" ; "humero-spinal dysostosis" (for all, see Synonyms field below)
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 Genes
 spondyloepiphyseal dysplasia with congenital joint dislocations       2
 for disease ribbon | spondyloepiphyseal dysplasia with congenital joint dislocations       2
 model of | spondyloepiphyseal dysplasia with congenital joint dislocations       2
Spanning Tree (Parents/Children)
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osteochondrodysplasia
 |__spondyloepiphyseal dysplasia__
disease                           |
 |__physical disorder_____________|
                                  spondyloepiphyseal dysplasia with congenital joint dislocations  2 rec.
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Is a physical disorder
spondyloepiphyseal dysplasia
Part of
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Synonyms
  • "CHONDRODYSPLASIA WITH MULTIPLE DISLOCATIONS" EXACT
    "CHST3-Related Skeletal Dysplasia" EXACT
    "humero-spinal dysostosis" EXACT
    "Humero-spinal dysostosis with congenital heart disease" EXACT
    "humerospinal dysostosis" EXACT
    "Kozlowski Celermajer Tink syndrome" EXACT
    "Omani Type" EXACT
    "Spondyloepiphyseal Dysplasia" EXACT
Secondary IDs
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MIM:143095